Background Congenital disorders of glycosylation (CDG) are inherited metabolic diseases
caused by defects in the genes important for the process of protein and lipid glycosylation …

Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of
rare metabolic diseases. With a clinical history that dates back over 40 years, it was the …

We report the updated classification of inborn errors of immunity, compiled by the
International Union of Immunological Societies Expert Committee. This report documents the …

Objectives: Severe acute respiratory syndrome coronavirus 2, the novel coronavirus
responsible for coronavirus disease (COVID-19), has been a major cause of morbidity and …

This review is the tenth update of the original article published in 1999 on the application of
matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry to the analysis of …

Immunological problems are increasingly acknowledged manifestations in many inherited
metabolic diseases (IMDs), ranging from exaggerated inflammation, autoimmunity and …

Background Shearer et al in 2014 articulated well-defined criteria for the diagnosis and
classification of severe combined immunodeficiency (SCID) as part of the Primary Immune …

Congenital disorders of glycosylation (CDG) are a widely acknowledged group of metabolic
diseases. PMM2-CDG is the most frequently diagnosed CDG with a prevalence as high as …

Mutations in glycosylation pathways, such as N-linked glycosylation, O-linked glycosylation,
and GPI anchor synthesis, lead to Congenital Disorders of Glycosylation (CDG). CDG …

Congenital disorders of glycosylation (CDG) are rare diseases with variable phenotypes and
severity. Immunological involvement remains a largely uncharted topic in CDG, mainly due …